title: Factor VIII gene inversions in haemophilia A patients of Slovakia.
abstract: Haemophilia A is caused by a broad range of mutations in the factor VIII (FVIII) gene. The most frequent of them is a large inversion, which appears to be the underlying defect in approximately 45% of all severely affected patients (FVIII < or = 1%). The results here are of 84 unrelated Slovak haemophilia A cases. The factor VIII inversion was identified in 22 of 44 (50%) patients with severe haemophilia A and in 1 of 13 patients with moderately severe disease. The inversions of distal type were more frequent (82.6%) than proximal ones (17.4%).
authors.affiliation: Institute of Molecular Physiology and Genetics, Bratislava, Slovakia.
authors.forename: H
authors.initials: H
authors.lastname: Poláková
authors.forename: L
authors.initials: L
authors.lastname: Kádasi
authors.forename: A
authors.initials: A
authors.lastname: Filová
mesh_terms: D007446:Chromosome Inversion; D005169:Factor VIII / Q000235:genetics*; D005820:Genetic Testing; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D018154:Slovakia
chemical_list: D005169:Factor VIII